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Article

Macular vessel density is associated with cognitive function in preclinical p.R544C NOTCH3 mutation carriers.

Journal of the Chinese Medical Association : JCMA - 1 Aug 2025

Chou Chien-Chih, Liang Chiao-Ying, Lin Chen-Yu, Wang I-Jong, Chang Chia-Jen, Chen Jun-Peng, Tung Hsin, Chen Hung-Chieh, Chen Hsian-Min, Chen Yi-Ming, Lee Wei-Ju

Abstract excerpt

BACKGROUND: The study aimed to examine the relationship between retinal microcirculation, brain white matter hyperintensities (WMH) seen on magnetic resonance imaging (MRI), and cognitive decline in asymptomatic carriers of NOTCH3 mutations, a preclinical stage of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. METHODS: Forty-nine asymptomatic carriers without stroke...

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Source

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Identifiers

PMID: 40604365
DOI: 10.1097/JCMA.0000000000001262
PMCID: PMC12637145

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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